Canonical Allele Identifier: CA2580613964

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1995412
• ClinVar RCV Id: RCV002796572

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902236_4902237dup , CM000679.2:g.4902236_4902237dup	GRCh38
NC_000017.10:g.4805531_4805532dup , CM000679.1:g.4805531_4805532dup	GRCh37
NC_000017.9:g.4746310_4746311dup	NCBI36
NG_008029.2:g.5842_5843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1703_*1704dup (C17orf107) MANE Select	ENSP00000370770.3:n.*1703_*1704dup
ENST00000649488.2:c.327_328dup (CHRNE) MANE Select	ENSP00000497829.1:p.Ile110ArgfsTer28
ENST00000649830.1:c.-607_-606dup (CHRNE)	ENSP00000496907.1:n.-607_-606dup
ENST00000293780.4:c.327_328dup (CHRNE)	ENSP00000293780.4:p.Ile110ArgfsTer28
ENST00000381365.3:c.*1703_*1704dup (C17orf107)	ENSP00000370770.3:n.*1703_*1704dup
ENST00000575637.1:n.148_149dup (CHRNE)
NM_000080.3:c.327_328dup (CHRNE)	NP_000071.1:p.Ile110ArgfsTer28
NM_001145536.1:c.*1703_*1704dup (C17orf107)	NP_001139008.1:n.*1703_*1704dup
XM_011523612.1:c.546+1730_546+1731dup (C17orf107)	XP_011521914.1:n.546+1730_546+1731dup
XM_011523631.1:c.327_328dup (CHRNE)	XP_011521933.1:p.Ile110ArgfsTer28
NM_000080.4:c.327_328dup (CHRNE) MANE Select	NP_000071.1:p.Ile110ArgfsTer28
XM_017024115.1:c.291_292dup (CHRNE)	XP_016879604.1:p.Ile98ArgfsTer28
XR_001752421.1:n.1172_1173dup (CHRNE)
NM_001145536.2:c.*1703_*1704dup (C17orf107) MANE Select	NP_001139008.1:n.*1703_*1704dup